Article
Mitochondrial DNA depletion syndrome: new descriptions and the use of citrate synthase as a helpful tool to better characterise the patients.
Molecular genetics and metabolism - 1 Nov 2012
Navarro-Sastre Aleix, Tort Frederic, Garcia-Villoria Judit, Pons Mónica Ruiz, Nascimento Andrés, Colomer Jaume, Campistol Jaume, Yoldi Maria Eugenia, López-Gallardo Ester, Montoya Julio, Unceta Maria, Martinez Maria Jesús, Briones Paz, Ribes Antonia
Abstract excerpt
Mitochondrial DNA depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterised by a quantitative reduction of the mitochondrial DNA copy number. Three main clinical forms of MDS: myopathic, encephalomyopathic and hepatocerebral have been defined, although patients may present with other MDS associated clinical symptoms and signs that cover a wide spectrum of onset age and...
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